Incidental Mutation 'R6965:Map3k13'
| ID |
541968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Map3k13
|
| Ensembl Gene |
ENSMUSG00000033618 |
| Gene Name |
mitogen-activated protein kinase kinase kinase 13 |
| Synonyms |
C130026N12Rik |
| MMRRC Submission |
045075-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6965 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
21643923-21752189 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21740900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 742
(D742E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156202
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042065]
[ENSMUST00000231988]
[ENSMUST00000232240]
|
| AlphaFold |
Q1HKZ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042065
AA Change: D742E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618
AA Change: D742E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
119 |
137 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
167 |
406 |
3.1e-60 |
PFAM |
|
Pfam:Pkinase_Tyr
|
167 |
406 |
2.4e-65 |
PFAM |
|
coiled coil region
|
456 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
632 |
649 |
N/A |
INTRINSIC |
|
low complexity region
|
805 |
821 |
N/A |
INTRINSIC |
|
low complexity region
|
833 |
843 |
N/A |
INTRINSIC |
|
low complexity region
|
932 |
945 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231988
AA Change: D742E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232240
AA Change: D742E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
C |
T |
7: 119,882,452 (GRCm39) |
Q1205* |
probably null |
Het |
| Als2 |
A |
G |
1: 59,209,716 (GRCm39) |
F1422S |
possibly damaging |
Het |
| Anapc4 |
T |
C |
5: 52,993,093 (GRCm39) |
V68A |
possibly damaging |
Het |
| Atmin |
T |
C |
8: 117,683,777 (GRCm39) |
F479S |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,518,101 (GRCm39) |
T234A |
probably benign |
Het |
| Bpifa1 |
G |
A |
2: 153,987,581 (GRCm39) |
G144S |
probably damaging |
Het |
| Brf2 |
A |
T |
8: 27,614,586 (GRCm39) |
M200K |
probably benign |
Het |
| C1ql2 |
G |
A |
1: 120,268,944 (GRCm39) |
C33Y |
probably damaging |
Het |
| Cdk18 |
A |
G |
1: 132,045,319 (GRCm39) |
V269A |
probably damaging |
Het |
| Clcc1 |
T |
C |
3: 108,580,625 (GRCm39) |
V313A |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,052,845 (GRCm39) |
T1117S |
probably benign |
Het |
| Col15a1 |
G |
A |
4: 47,247,533 (GRCm39) |
E236K |
probably damaging |
Het |
| Comp |
T |
C |
8: 70,829,164 (GRCm39) |
L278P |
probably damaging |
Het |
| Csnk2a1-ps3 |
C |
T |
1: 156,352,119 (GRCm39) |
R107* |
probably null |
Het |
| Dlg5 |
C |
A |
14: 24,199,498 (GRCm39) |
D1469Y |
probably damaging |
Het |
| Efna1 |
A |
T |
3: 89,186,782 (GRCm39) |
V23D |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Epb41l4b |
T |
C |
4: 57,040,915 (GRCm39) |
Y516C |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,168,631 (GRCm39) |
D526G |
probably damaging |
Het |
| Fam184b |
T |
C |
5: 45,712,477 (GRCm39) |
T514A |
probably benign |
Het |
| Fcmr |
A |
C |
1: 130,803,724 (GRCm39) |
E176A |
possibly damaging |
Het |
| Fry |
T |
A |
5: 150,339,685 (GRCm39) |
N1485K |
possibly damaging |
Het |
| Fut2 |
A |
G |
7: 45,300,305 (GRCm39) |
C156R |
probably damaging |
Het |
| Gm5431 |
T |
C |
11: 48,786,027 (GRCm39) |
Y116C |
probably benign |
Het |
| Gm5493 |
T |
A |
17: 22,967,047 (GRCm39) |
V61E |
possibly damaging |
Het |
| Golga4 |
A |
T |
9: 118,377,847 (GRCm39) |
Q456L |
probably damaging |
Het |
| Gpam |
T |
C |
19: 55,063,041 (GRCm39) |
Y757C |
probably damaging |
Het |
| Iqcg |
C |
T |
16: 32,851,174 (GRCm39) |
A266T |
probably benign |
Het |
| Lta4h |
G |
T |
10: 93,307,759 (GRCm39) |
G331* |
probably null |
Het |
| Macf1 |
C |
A |
4: 123,302,538 (GRCm39) |
V655F |
probably benign |
Het |
| Mrgprb2 |
G |
A |
7: 48,202,597 (GRCm39) |
L43F |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,571,461 (GRCm39) |
R846G |
probably damaging |
Het |
| Nbn |
T |
C |
4: 15,970,863 (GRCm39) |
I282T |
probably benign |
Het |
| Ncor1 |
C |
T |
11: 62,244,059 (GRCm39) |
|
probably null |
Het |
| Or4a77 |
G |
T |
2: 89,487,009 (GRCm39) |
P259T |
probably damaging |
Het |
| Or4d10c |
A |
G |
19: 12,066,120 (GRCm39) |
F12S |
possibly damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,433 (GRCm39) |
M1K |
probably null |
Het |
| Pclo |
A |
G |
5: 14,731,976 (GRCm39) |
|
probably benign |
Het |
| Pde9a |
G |
T |
17: 31,662,861 (GRCm39) |
V97L |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,672,881 (GRCm39) |
Y771C |
possibly damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,551,284 (GRCm39) |
D94N |
probably damaging |
Het |
| Rnpep |
T |
A |
1: 135,190,858 (GRCm39) |
K602* |
probably null |
Het |
| Rph3al |
T |
C |
11: 75,745,276 (GRCm39) |
Y156C |
probably damaging |
Het |
| Rundc1 |
A |
T |
11: 101,324,737 (GRCm39) |
Y481F |
possibly damaging |
Het |
| Serpinb9f |
A |
G |
13: 33,509,859 (GRCm39) |
K17R |
possibly damaging |
Het |
| Smpd3 |
T |
C |
8: 106,986,513 (GRCm39) |
H459R |
probably damaging |
Het |
| Spata31 |
A |
C |
13: 65,070,648 (GRCm39) |
Q932P |
possibly damaging |
Het |
| Srgap3 |
C |
T |
6: 112,700,090 (GRCm39) |
A963T |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,179,120 (GRCm39) |
F4451L |
possibly damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,014,266 (GRCm39) |
|
probably null |
Het |
| Thap12 |
T |
A |
7: 98,364,669 (GRCm39) |
V279D |
probably damaging |
Het |
| Tmprss6 |
T |
C |
15: 78,328,328 (GRCm39) |
D544G |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,164,930 (GRCm39) |
*523W |
probably null |
Het |
| Txnrd1 |
T |
C |
10: 82,717,652 (GRCm39) |
I212T |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,685,725 (GRCm39) |
I2283T |
probably benign |
Het |
| Vmn1r176 |
A |
G |
7: 23,535,099 (GRCm39) |
I18T |
possibly damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,811,284 (GRCm39) |
T456I |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 86,651,100 (GRCm39) |
H166Q |
probably benign |
Het |
| Zer1 |
A |
G |
2: 29,991,059 (GRCm39) |
V723A |
possibly damaging |
Het |
|
| Other mutations in Map3k13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00977:Map3k13
|
APN |
16 |
21,740,514 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01092:Map3k13
|
APN |
16 |
21,746,766 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01958:Map3k13
|
APN |
16 |
21,710,873 (GRCm39) |
missense |
probably benign |
|
|
IGL02444:Map3k13
|
APN |
16 |
21,732,982 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02503:Map3k13
|
APN |
16 |
21,727,454 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02712:Map3k13
|
APN |
16 |
21,724,005 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03342:Map3k13
|
APN |
16 |
21,710,981 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0086:Map3k13
|
UTSW |
16 |
21,732,975 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0124:Map3k13
|
UTSW |
16 |
21,722,506 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0281:Map3k13
|
UTSW |
16 |
21,732,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Map3k13
|
UTSW |
16 |
21,710,738 (GRCm39) |
missense |
probably benign |
|
|
R0601:Map3k13
|
UTSW |
16 |
21,723,999 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0669:Map3k13
|
UTSW |
16 |
21,725,274 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0918:Map3k13
|
UTSW |
16 |
21,744,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1641:Map3k13
|
UTSW |
16 |
21,722,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1838:Map3k13
|
UTSW |
16 |
21,732,939 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1891:Map3k13
|
UTSW |
16 |
21,729,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Map3k13
|
UTSW |
16 |
21,710,894 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2332:Map3k13
|
UTSW |
16 |
21,717,427 (GRCm39) |
splice site |
probably null |
|
|
R2361:Map3k13
|
UTSW |
16 |
21,725,286 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4395:Map3k13
|
UTSW |
16 |
21,717,321 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4505:Map3k13
|
UTSW |
16 |
21,740,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4506:Map3k13
|
UTSW |
16 |
21,740,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4521:Map3k13
|
UTSW |
16 |
21,724,525 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4753:Map3k13
|
UTSW |
16 |
21,710,752 (GRCm39) |
missense |
probably benign |
|
|
R4952:Map3k13
|
UTSW |
16 |
21,729,769 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5035:Map3k13
|
UTSW |
16 |
21,740,421 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5327:Map3k13
|
UTSW |
16 |
21,740,397 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5784:Map3k13
|
UTSW |
16 |
21,717,391 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5831:Map3k13
|
UTSW |
16 |
21,746,798 (GRCm39) |
makesense |
probably null |
|
|
R5996:Map3k13
|
UTSW |
16 |
21,723,995 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6007:Map3k13
|
UTSW |
16 |
21,723,933 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6546:Map3k13
|
UTSW |
16 |
21,740,527 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6620:Map3k13
|
UTSW |
16 |
21,711,061 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6683:Map3k13
|
UTSW |
16 |
21,711,062 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6692:Map3k13
|
UTSW |
16 |
21,723,987 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6695:Map3k13
|
UTSW |
16 |
21,741,028 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6743:Map3k13
|
UTSW |
16 |
21,711,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6822:Map3k13
|
UTSW |
16 |
21,741,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7149:Map3k13
|
UTSW |
16 |
21,744,187 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7174:Map3k13
|
UTSW |
16 |
21,745,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7256:Map3k13
|
UTSW |
16 |
21,710,988 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7400:Map3k13
|
UTSW |
16 |
21,741,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7733:Map3k13
|
UTSW |
16 |
21,740,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7848:Map3k13
|
UTSW |
16 |
21,724,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7871:Map3k13
|
UTSW |
16 |
21,740,346 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7876:Map3k13
|
UTSW |
16 |
21,741,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8002:Map3k13
|
UTSW |
16 |
21,723,878 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8089:Map3k13
|
UTSW |
16 |
21,722,567 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8341:Map3k13
|
UTSW |
16 |
21,740,334 (GRCm39) |
nonsense |
probably null |
|
|
R8738:Map3k13
|
UTSW |
16 |
21,745,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Map3k13
|
UTSW |
16 |
21,727,454 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8949:Map3k13
|
UTSW |
16 |
21,723,882 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9391:Map3k13
|
UTSW |
16 |
21,740,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9749:Map3k13
|
UTSW |
16 |
21,740,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9802:Map3k13
|
UTSW |
16 |
21,740,518 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1176:Map3k13
|
UTSW |
16 |
21,723,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCACAAAGACAGATGCCTG -3'
(R):5'- CCCTTTGATGTCAGAGACAGTC -3'
Sequencing Primer
(F):5'- ACAGATGCCTGGCTCAAGC -3'
(R):5'- CCTTTGATGTCAGAGACAGTCTACAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation